Výsledky vyhledávání - "van Leeuwen, E.M."

WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene

Autor: Nersisyan, Lilit, Nikoghosyan, Maria, Arakelyan, Arsen, Francioli, Laurent, Menelaou, A. (Androniki), Pulit, S.L. (Sara L.), Elbers, C.C. (Clara C.), Kloosterman, Wigard, van Setten, J. (Jessica), Nijman, Isaac, Renkens, Ivo, de Bakker, P.I.W. (Paul I. W.), Dijk, Freerk, Neerincx, Pieter, Deelen, Patrick, Kanterakis, Alexandros, Dijkstra, Martijn, Byelas, H. (Heorhiy), van der Velde, K.J. (K. Joeri), Platteel, Mathieu, Swertz, M.A. (Morris A.), Wijmenga, Cisca, Palamara, P.F. (Pier Francesco), Pe’er, I. (Itsik), Ye, K. (Kai), Lameijer, Eric-Wubbo, Moed, M.H. (Matthijs H.), Beekman, M. (Marian), Craen, Anton, Suchiman, H.E.D. (H. Eka D.), Slagboom, Eline, Guryev, Victor, Abdellaoui, Abdel, Jan Hottenga, J. (Jouke), Kattenberg, M. (Mathijs), Willemsen, Gonneke, Boomsma, Dorret, van Leeuwen, E.M. (Elisabeth M.), Karssen, Lennart, Amin, N. (Najaf), Rivadeneira, F. (Fernando), Isaacs, A. (Aaron), Hofman, A. (Albert), Uitterlinden, André, Duijn, Cornelia, van Oven, M. (Mannis), Kayser, M. (Manfred), Vermaat, Martijn, Laros, Jeroen, Dunnen, Johan, Enckevort, David, Mei, Hailiang, Li, M. (Mingkun), Stoneking, M. (Mark), Schaik, Barbera, Bot, Jan, Marschall, Tobias, Schönhuth, Alexander, Hehir-Kwa, Jayne, Handsaker, Robert, Polak, P. (Paz), Sohail, M. (Mashaal), Vuzman, D. (Dana), Estrada, Karol, McCarroll, S.A. (Steven A.), Sunyaev, S.R. (Shamil R.), Hormozdiari, Fereydoun, Koval, Vyacheslav, Medina-Gomez, C. (Carolina), Oostra, B. (Ben), Veldink, Jan, van den Berg, L.H. (Leonard H.), Pitts, S.J. (Steven J.), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D.R. (David R.), Knijff, Peter, Li, Q. (Qibin), Li, Y. (Yingrui), Du, Yuanping, Chen, Ruoyan, Cao, H. (Hongzhi), Wang, J. (Jun), Li, N. (Ning), Cao, S. (Sujie), Bovenberg, Jasper, Ommen, Gert-Jan, The Genome of the Netherlands Consortium

Publikováno v: Nersisyan, L, Nikoghosyan, M, Francioli, L C, Menelaou, A, Pulit, S L, Elbers, C C, Kloosterman, W P, van Setten, J, Nijman, I J, Renkens, I, de Bakker, P I W, van Dijk, F, Neerincx, P B T, Deelen, P, Kanterakis, A, Dijkstra, M, Byelas, H, van der Velde, K J, Platteel, M, Swertz, M A, Wijmenga, C, Palamara, P F, Pe'er, I, Ye, K, Lameijer, E-W, Moed, M H, Beekman, M, de Craen, A J M, Suchiman, H E D, Slagboom, P E, Guryev, V, Abdellaoui, A, Hottenga, J J, Kattenberg, M, Willemsen, G, Boomsma, D I, van Leeuwen, E M, Karssen, L C, Amin, N, Rivadeneira, F, Isaacs, A, Hofman, A, Uitterlinden, A G, van Duijn, C M, van Oven, M, Kayser, M, Vermaat, M, Laros, J F J, den Dunnen, J T, van Enckevort, D, Mei, H, Li, M, Stoneking, M, van Schaik, B D C, Bot, J, Marschall, T, Schonhuth, A, Hehir-Kwa, J Y, Handsaker, R E, Polak, P, Sohail, M, Vuzman, D, Estrada, K, McCarroll, S A, Sunyaev, S R, Hormozdiari, F, Koval, V, Medina-Gomez, C, Oostra, B, Veldink, J H, van den Berg, L H, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, de Knijff, P, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Wang, J, Li, N, Cao, S, Bovenberg, J A, van Ommen, G-J B & Arakelyan, A 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, 18758 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports, 9(1):18758, 1-9. Nature Publishing Group
Scientific Reports, 9(1):18758. Nature Publishing Group
Scientific Reports, 9(1). Nature Publishing Group
Scientific Reports, 9. NATURE PUBLISHING GROUP
Nature Scientific Reports, 9(1)
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports, 9:18758. Nature Publishing Group
Scientific reports, 9(1):18758. Nature Publishing Group
Scientific reports, vol 9, iss 1
Nersisyan, L, Arakelyan, A, Abdellaoui, A, Jan Hottenga, J, Kattenberg, M, Willemsen, G, Boomsma, D I & The Genome of the Netherlands consortium 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, no. 1, 18758, pp. 1-9 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports

Telomere length (TL) regulation is an important factor in ageing, reproduction and cancer development. Genetic, hereditary and environmental factors regulating TL are currently widely investigated, however, their relative contribution to TL variabili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbec0f3bca0eb566284734623f469e3
https://curis.ku.dk/ws/files/237702127/WGS_based_telomere_length_analysis_in_Dutch_family_trios_implicates_stronger_maternal_inheritance_and_a_role_for_RRM1_gene.pdf

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Genome-wide patterns and properties of de novo mutations in humans

Autor: Francioli, L.C., Polak, P.P., Koren, A., Menelaou, A., Chun, S., Renkens, I., van Duijn, C.M., Swertz, M.A., Wijmenga, C., van Ommen, G.J., Slagboom, P.E., Boomsma, D.I., Ye, K., Guryev, V., Arndt, P.F., Kloosterman, W.P., Bakker, P.I.W., Sunyaev, S.R., Dijk, F., Neerincx, P.B.T., Pulit, S.L., Deelen, P., Elbers, C.C., Palamara, P.F., Pe'er, I., Abdellaoui, A., van Oven, M., Vermaat, M., Li, M., Laros, J.F.J., Stoneking, M., de Knijff, P., Kayser, M., Veldink, J.H., Van den Berg, L.H., Byelas, H., den Dunnen, J.T., Dijkstra, M., Amin, N., van der Velde, K.J., Hottenga, J.J., van Setten, J., van Leeuwen, E.M., Kanterakis, A., Kattenberg, V.M., Karssen, L.C., van Schaik, B.D.C., Bot, J., Nijman, I.J., van Enckevort, D., Mei, H., Koval, V., Estrada, K., Medina-Gomez, C., Lameijer, E.W., Moed, M.H., Hehir-Kwa, J.Y., Handsaker, R.E., McCarroll, S.A., Vuzman, D., Sohail, M., Hormozdiari, F., Marschall, T., Schönhuth, A., Beekman, M., de Craen, A.J., Suchiman, H.E.D., Hofman, A., Oostra, B., Isaacs, A., Rivadeneira, F., Uitterlinden, A.G., Willemsen, G., Platteel, M., Pitts, S.J., Potluri, S., Sundar, P., Cox, D.R., Li, Q., Li, Y., Du, Y., Chen, R., Cao, H., Li, N., Cao, S., Wang, J., Bovenberg, J.A., Brandsma, M.

Publikováno v: Nature Genetics, 47(7), 822-826.e3. Nature Publishing Group
Nature Genetics
Nature Genetics, 47(7), 822-826. Nature Publishing Group
Nature genetics
Nature Genetics, 47(7), 822-+. Nature Publishing Group
Nature Genetics, 47(7), 822
Francioli, L C, Polak, P P, Koren, A, Menelaou, A, Chun, S, Renkens, I, van Duijn, C M, Swertz, M A, Wijmenga, C, van Ommen, G J, Slagboom, P E, Boomsma, D I, Ye, K, Guryev, V, Arndt, P F, Kloosterman, W P, Bakker, P I W, Sunyaev, S R, Dijk, F, Neerincx, P B T, Pulit, S L, Deelen, P, Elbers, C C, Palamara, P F, Pe'er, I, Abdellaoui, A, van Oven, M, Vermaat, M, Li, M, Laros, J F J, Stoneking, M, de Knijff, P, Kayser, M, Veldink, J H, Van den Berg, L H, Byelas, H, den Dunnen, J T, Dijkstra, M, Amin, N, van der Velde, K J, Hottenga, J J, van Setten, J, van Leeuwen, E M, Kanterakis, A, Kattenberg, V M, Karssen, L C, van Schaik, B D C, Bot, J, Nijman, I J, van Enckevort, D, Mei, H, Koval, V, Estrada, K, Medina-Gomez, C, Lameijer, E W, Moed, M H, Hehir-Kwa, J Y, Handsaker, R E, McCarroll, S A, Vuzman, D, Sohail, M, Hormozdiari, F, Marschall, T, Schönhuth, A, Beekman, M, de Craen, A J, Suchiman, H E D, Hofman, A, Oostra, B, Isaacs, A, Rivadeneira, F, Uitterlinden, A G, Willemsen, G, Platteel, M, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, J A & Brandsma, M 2015, ' Genome-wide patterns and properties of de novo mutations in humans ', Nature Genetics, vol. 47, no. 7, pp. 822-826 . https://doi.org/10.1038/ng.3292

Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect(1-10). Here we analyze 11,020 de novo mutations from the whole genomes of 250 familie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcffa53d5a79b0ce9e9a5a500dbe44cb
https://research.rug.nl/en/publications/eb8bb667-af9e-4a22-b523-97671a070699

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